Canonical Allele Identifier: CA367750690

Gene: POR

Linked Data

• dbSNP Id: rs1789432393
• gnomAD v3: 7-75986048-T-C
• gnomAD v4: 7-75986048-T-C
• MyVariant Identifiers: chr7:g.75615366T>C (hg19) ; chr7:g.75986048T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75986048T>C , CM000669.2:g.75986048T>C	GRCh38
NC_000007.13:g.75615366T>C , CM000669.1:g.75615366T>C	GRCh37
NC_000007.12:g.75453302T>C	NCBI36
NG_008930.1:g.75947T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.1570T>C	ENSP00000516446.1:p.Ser524Pro
ENST00000706544.1:c.1696T>C	ENSP00000516442.1:p.Ser566Pro
ENST00000706545.1:c.1795T>C	ENSP00000516443.1:p.Ser599Pro
ENST00000706546.1:c.1795T>C	ENSP00000516444.1:p.Ser599Pro
ENST00000706547.1:c.1795T>C	ENSP00000516445.1:p.Ser599Pro
ENST00000461988.6:c.1795T>C MANE Select	ENSP00000419970.1:p.Ser599Pro
ENST00000394893.5:c.1795T>C	ENSP00000378355.1:p.Ser599Pro
ENST00000412064.6:c.*109-12T>C	ENSP00000404731.2:n.*109-12T>C
ENST00000439269.1:c.1009T>C	ENSP00000412490.1:p.Ser337Pro
ENST00000447222.5:c.1946T>C
ENST00000454934.5:c.*1100T>C	ENSP00000414263.1:n.*1100T>C
ENST00000461988.5:c.1795T>C	ENSP00000419970.1:p.Ser599Pro
ENST00000493973.1:n.406T>C
NM_000941.2:c.1795T>C	NP_000932.3:p.Ser599Pro
NM_000941.3:c.1795T>C	NP_000932.3:p.Ser599Pro
NM_001367562.1:c.1795T>C	NP_001354491.1:p.Ser599Pro
NM_001382655.1:c.1849T>C	NP_001369584.1:p.Ser617Pro
NM_001382657.1:c.1795T>C	NP_001369586.1:p.Ser599Pro
NM_001382658.1:c.1795T>C	NP_001369587.1:p.Ser599Pro
NM_001382659.1:c.1795T>C	NP_001369588.1:p.Ser599Pro
NM_001382662.1:c.1645T>C	NP_001369591.1:p.Ser549Pro
NM_001367562.3:c.1786T>C	NP_001354491.2:p.Ser596Pro
NM_001382655.3:c.1840T>C	NP_001369584.2:p.Ser614Pro
NM_001382657.2:c.1786T>C	NP_001369586.2:p.Ser596Pro
NM_001382658.3:c.1786T>C	NP_001369587.2:p.Ser596Pro
NM_001382659.3:c.1786T>C	NP_001369588.2:p.Ser596Pro
NM_001382662.3:c.1636T>C	NP_001369591.2:p.Ser546Pro
NM_001395413.1:c.1786T>C MANE Select	NP_001382342.1:p.Ser596Pro